Canonical Allele Identifier: CA515859371

Gene: DMD

Linked Data

• MyVariant Identifiers: chrX:g.31792212T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774095T>A , CM000685.2:g.31774095T>A	GRCh38
NC_000023.10:g.31792212T>A , CM000685.1:g.31792212T>A	GRCh37
NC_000023.9:g.31702133T>A	NCBI36
NG_012232.1:g.1570515A>T , LRG_199:g.1570515A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.2253A>T	ENSP00000350765.3:p.Val751=
ENST00000682238.1:c.27A>T	ENSP00000508124.1:p.Val9=
ENST00000683117.1:n.1068A>T
ENST00000683450.1:n.990A>T
ENST00000683851.1:n.1068A>T
ENST00000683957.1:n.899A>T
ENST00000684130.1:c.27A>T	ENSP00000508037.1:p.Val9=
ENST00000357033.9:c.7407A>T MANE Select	ENSP00000354923.3:p.Val2469=
ENST00000619831.5:c.3375A>T	ENSP00000479270.2:p.Val1125=
ENST00000620040.5:c.27A>T	ENSP00000478150.2:p.Val9=
ENST00000680961.1:c.27A>T	ENSP00000506386.1:p.Val9=
ENST00000681646.1:n.1068A>T
ENST00000681839.1:c.396A>T	ENSP00000505228.1:p.Val132=
ENST00000357033.8:c.7407A>T	ENSP00000354923.3:p.Val2469=
ENST00000358062.6:c.495A>T	ENSP00000350765.2:p.Val165=
ENST00000359836.5:c.27A>T	ENSP00000352894.1:p.Val9=
ENST00000378677.6:c.7395A>T	ENSP00000367948.2:p.Val2465=
ENST00000378707.7:c.27A>T	ENSP00000367979.3:p.Val9=
ENST00000471779.1:c.164A>T	ENSP00000417075.1:n.164A>T
ENST00000474231.5:c.27A>T	ENSP00000417123.1:p.Val9=
ENST00000541735.5:c.27A>T	ENSP00000444119.1:p.Val9=
ENST00000619831.4:c.7392A>T	ENSP00000479270.1:p.Val2464=
ENST00000620040.4:c.7404A>T	ENSP00000478150.1:p.Val2468=
NM_000109.3:c.7383A>T	NP_000100.2:p.Val2461=
NM_004006.2:c.7407A>T , LRG_199t1:c.7407A>T	NP_003997.1:p.Val2469=
NM_004009.3:c.7395A>T	NP_004000.1:p.Val2465=
NM_004010.3:c.7038A>T	NP_004001.1:p.Val2346=
NM_004011.3:c.3384A>T	NP_004002.2:p.Val1128=
NM_004012.3:c.3375A>T	NP_004003.1:p.Val1125=
NM_004013.2:c.27A>T	NP_004004.1:p.Val9=
NM_004020.3:c.27A>T	NP_004011.2:p.Val9=
NM_004021.2:c.27A>T	NP_004012.1:p.Val9=
NM_004022.2:c.27A>T	NP_004013.1:p.Val9=
NM_004023.2:c.27A>T	NP_004014.1:p.Val9=
XM_006724468.2:c.7407A>T	XP_006724531.1:p.Val2469=
XM_006724469.2:c.7383A>T	XP_006724532.1:p.Val2461=
XM_006724470.2:c.7407A>T	XP_006724533.1:p.Val2469=
XM_006724471.2:c.7407A>T	XP_006724534.1:p.Val2469=
XM_006724472.2:c.7278A>T	XP_006724535.1:p.Val2426=
XM_006724473.2:c.7269A>T	XP_006724536.1:p.Val2423=
XM_006724474.2:c.7407A>T	XP_006724537.1:p.Val2469=
XM_006724475.2:c.7407A>T	XP_006724538.1:p.Val2469=
XM_011545467.1:c.7284A>T	XP_011543769.1:p.Val2428=
XM_011545468.1:c.7407A>T	XP_011543770.1:p.Val2469=
XM_006724469.3:c.7383A>T	XP_006724532.1:p.Val2461=
XM_006724470.3:c.7407A>T	XP_006724533.1:p.Val2469=
XM_006724474.3:c.7407A>T	XP_006724537.1:p.Val2469=
XM_011545468.2:c.7407A>T	XP_011543770.1:p.Val2469=
XM_017029328.1:c.7407A>T	XP_016884817.1:p.Val2469=
XM_017029331.1:c.1581A>T	XP_016884820.1:p.Val527=
NM_000109.4:c.7383A>T	NP_000100.3:p.Val2461=
NM_004006.3:c.7407A>T MANE Select	NP_003997.2:p.Val2469=
NM_004011.4:c.3384A>T	NP_004002.3:p.Val1128=
NM_004012.4:c.3375A>T	NP_004003.2:p.Val1125=
NM_004021.3:c.27A>T	NP_004012.2:p.Val9=
NM_004023.3:c.27A>T	NP_004014.2:p.Val9=
NM_004013.3:c.27A>T	NP_004004.2:p.Val9=
NM_004020.4:c.27A>T	NP_004011.3:p.Val9=
NM_004022.3:c.27A>T	NP_004013.2:p.Val9=